p.100 抽出テキスト
that are common in Chinese patients. Circ Genom Precis Med 2020;13:424–434. https:// doi.org/10.1161/CIRCGEN.119.002823 189. Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, et al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation 2021;144:7–19. https://doi. org/10.1161/CIRCULATIONAHA.120.053033 190. James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, et al. International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework. Circ Genom Precis Med 2021;14:e003273. https://doi.org/10.1161/CIRCGEN.120.003273 191. Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, et al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ Genom Precis Med 2019;12: e002460. https://doi.org/10.1161/CIRCGEN.119.002460 191a. ClinGen Clinical Genome Resource. https://search.clinicalgenome.org/kb/genevalidity (12 July 2023 date last accessed). 192. Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1381–1390. https://doi.org/10.1038/s41436-021-01172-3 193. Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1391–1398. https://doi.org/ 10.1038/s41436-021-01171-4 194. Watkins H. Time to think differently about sarcomere-negative hypertrophic cardiomyopathy. Circulation 2021;143:2415–2417. https://doi.org/10.1161/ CIRCULATIONAHA.121.053527 195. Kumuthini J, Zick B, Balasopoulou A, Chalikiopoulou C, Dandara C, El-Kamah G, et al. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Hum Genet 2022;141:1697–1704. https://doi.org/10.1007/s00439-022- 02452-x 196. Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 2020;11:2254. https://doi.org/10.1038/s41467-020- 15823-7 197. Biddinger KJ, Jurgens SJ, Maamari D, Gaziano L, Choi SH, Morrill VN, et al. Rare and common genetic variation underlying the risk of hypertrophic cardiomyopathy in a National Biobank. JAMA Cardiol 2022;7:715–722. https://doi.org/10.1001/jamacardio. 2022.1061 198. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–424. https://doi.org/10.1038/gim. 2015.30 199. Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet Med 2018;20:351–359. https://doi.org/10. 1038/gim.2017.218 200. Arbustini E, Behr ER, Carrier L, van Duijn C, Evans P, Favalli V, et al. Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. Eur Heart J 2022;43:1901–1916. https://doi.org/10.1093/eurheartj/ehab895 201. National Society of Genetic Counselors Definition Task Force; Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. J Genet Couns 2006;15:77–83. https://doi. org/10.1007/s10897-005-9014-3 202. Biesecker BB. Goals of genetic counseling. Clin Genet 2001;60:323–330. https://doi.org/ 10.1034/j.1399-0004.2001.600501.x 203. Ingles J, Yeates L, Semsarian C. The emerging role of the cardiac genetic counselor. Heart Rhythm 2011;8:1958–1962. https://doi.org/10.1016/j.hrthm.2011.07.017 204. Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, et al. Psychosocial impact of predictive genetic testing in hereditary heart diseases: the PREDICT study. J Clin Med 2020;9:1365. https://doi.org/10.3390/jcm9051365 205. Ingles J. Psychological issues in managing families with inherited cardiovascular diseases. Cold Spring Harb Perspect Med 2020;10:a036558. https://doi.org/10.1101/cshperspect. a036558 206. Edwards A, Gray J, Clarke A, Dundon J, Elwyn G, Gaff C, et al. Interventions to improve risk communication in clinical genetics: systematic review. Patient Educ Couns 2008;71: 4–25. https://doi.org/10.1016/j.pec.2007.11.026 207. Austin J, Semaka A, Hadjipavlou G. Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. J Genet Couns 2014;23:903–909. https://doi.org/10. 1007/s10897-014-9728-1 208. Michie S, Marteau TM, Bobrow M. Genetic counselling: the psychological impact of meeting patients’ expectations. J Med Genet 1997;34:237–241. https://doi.org/10. 1136/jmg.34.3.237 209. Ison HE, Ware SM, Schwantes-An TH, Freeze S, Elmore L, Spoonamore KG. The impact of cardiovascular genetic counseling on patient empowerment. J Genet Couns 2019;28:570–577. https://doi.org/10.1002/jgc4.1050 210. Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K. Public Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Genetic testing in asymptomatic minors: background considerations towards ESHG recommendations. Eur J Hum Genet 2009;17:711–719. https://doi.org/10.1038/ejhg. 2009.25 211. Ormondroyd E, Oates S, Parker M, Blair E, Watkins H. Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications. Eur J Hum Genet 2014;22:88–93. https://doi.org/10.1038/ejhg.2013.81 212. Spanaki A, O’Curry S, Winter-Beatty J, Mead-Regan S, Hawkins K, English J, et al. Psychosocial adjustment and quality of life in children undergoing screening in a specialist paediatric hypertrophic cardiomyopathy clinic. Cardiol Young 2016;26: 961–967. https://doi.org/10.1017/S1047951115001717 213. Ingles J, Semsarian C. Conveying a probabilistic genetic test result to families with an inherited heart disease. Heart Rhythm 2014;11:1073–1078. https://doi.org/10.1016/j. hrthm.2014.03.017 214. Whyte S, Green A, McAllister M, Shipman H. Family communication in inherited cardiovascular conditions in Ireland. J Genet Couns 2016;25:1317–1326. https://doi.org/10. 1007/s10897-016-9974-5 215. Daly MB, Montgomery S, Bingler R, Ruth K. Communicating genetic test results within the family: is it lost in translation? A survey of relatives in the randomized six-step study. Fam Cancer 2016;15:697–706. https://doi.org/10.1007/s10689-016-9889-1 216. Burns C, McGaughran J, Davis A, Semsarian C, Ingles J. Factors influencing uptake of familial long QT syndrome genetic testing. Am J Med Genet A 2016;170A:418–425. https://doi.org/10.1002/ajmg.a.37455 217. Kaphingst KA, Blanchard M, Milam L, Pokharel M, Elrick A, Goodman MS. Relationships between health literacy and genomics-related knowledge, self-efficacy, perceived importance, and communication in a medically underserved population. J Health Commun 2016;21:58–68. https://doi.org/10.1080/10810730.2016.1144661 218. Yeates L, McDonald K, Burns C, Semsarian C, Carter S, Ingles J. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. Eur J Hum Genet 2022;30:187–193. https://doi.org/10.1038/s41431-021- 00963-1 219. Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, et al. Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ Genom Precis Med 2021;14:e000086. https://doi.org/10.1161/HCG.0000000000000086 220. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D’Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45:16–26. https://doi.org/10.1002/uog. 14636 221. Meiser B, Irle J, Lobb E, Barlow-Stewart K. Assessment of the content and process of genetic counseling: a critical review of empirical studies. J Genet Couns 2008;17: 434–451. https://doi.org/10.1007/s10897-008-9173-0 222. Waddell-Smith KE, Donoghue T, Oates S, Graham A, Crawford J, Stiles MK, et al. Inpatient detection of cardiac-inherited disease: the impact of improving family history taking. Open Heart 2016;3:e000329. https://doi.org/10.1136/openhrt-2015-000329 223. Murray B, Tichnell C, Burch AE, Calkins H, James CA. Strength of the genetic counselor: patient relationship is associated with extent of increased empowerment in patients with arrhythmogenic cardiomyopathy. J Genet Couns 2022;31:388–397. https://doi.org/10.1002/jgc4.1499 224. Ingles J, Lind JM, Phongsavan P, Semsarian C. Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genet Med 2008;10:117–120. https:// doi.org/10.1097/GIM.0b013e3181612cc7 225. Furqan A, Arscott P, Girolami F, Cirino AL, Michels M, Day SM, et al. Care in specialized centers and data sharing increase agreement in hypertrophic cardiomyopathy genetic test interpretation. Circ Cardiovasc Genet 2017;10:e001700. https://doi.org/10.1161/ CIRCGENETICS.116.001700 226. Reuter C, Grove ME, Orland K, Spoonamore K, Caleshu C. Clinical cardiovascular genetic counselors take a leading role in team-based variant classification. J Genet Couns 2018;27:751–760. https://doi.org/10.1007/s10897-017-0175-7 227. Ingles J, McGaughran J, Scuffham PA, Atherton J, Semsarian C. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy. Heart 2012;98:625–630. https://doi.org/10.1136/heartjnl-2011-300368 228. Wordsworth S, Leal J, Blair E, Legood R, Thomson K, Seller A, et al. DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. Eur Heart J 2010;31: 926–935. https://doi.org/10.1093/eurheartj/ehq067 229. Catchpool M, Ramchand J, Martyn M, Hare DL, James PA, Trainer AH, et al. A costeffectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy. Genet Med 2019;21:2815–2822. https://doi.org/10.1038/s41436-019-0582-2 230. Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026